(used for variant description)
(last modified June 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001098.2 in the ACO2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032143.1, covering ACO2 transcript NM_001098.2.
(upstream sequence)
. . g.5022
ctcatctttgtcagtgcacaaa c.-1
. . . | 02 . . . g.35625
ATGGCGCCCTACAGCCTACTGGTGACTCGGCTGCAG | AAAGCTCTGGGTGTGCGGCAGTAC c.60
M A P Y S L L V T R L Q | K A L G V R Q Y p.20
. . . . . . g.35685
CATGTGGCCTCAGTCCTGTGCCAACGGGCCAAGGTGGCGATGAGCCACTTTGAGCCCAAC c.120
H V A S V L C Q R A K V A M S H F E P N p.40
. . . . . | 03 . g.43673
GAGTACATCCATTATGACCTGCTAGAGAAGAACATTAACATTGTTCGCAAACG | ACTGAAC c.180
E Y I H Y D L L E K N I N I V R K R | L N p.60
. . . . . . g.43733
CGGCCGCTGACACTCTCGGAGAAGATTGTGTATGGACACCTGGATGACCCCGCCAGCCAG c.240
R P L T L S E K I V Y G H L D D P A S Q p.80
. . . . . . g.43793
GAAATTGAGCGAGGCAAGTCGTACCTGCGGCTGCGGCCGGACCGTGTGGCCATGCAGGAT c.300
E I E R G K S Y L R L R P D R V A M Q D p.100
. . . . . . g.43853
GCGACGGCCCAGATGGCCATGCTCCAGTTCATCAGCAGCGGGCTGTCCAAGGTGGCTGTG c.360
A T A Q M A M L Q F I S S G L S K V A V p.120
. . . . . . g.43913
CCATCCACCATCCACTGTGACCATCTGATTGAAGCCCAGGTTGGGGGCGAGAAAGACCTG c.420
P S T I H C D H L I E A Q V G G E K D L p.140
. | 04 . . . . . g.47799
CGCCGGGCCAAG | GACATCAACCAGGAAGTTTATAATTTCCTGGCAACTGCAGGTGCCAAA c.480
R R A K | D I N Q E V Y N F L A T A G A K p.160
. . . . | 05 . . g.51267
TATGGCGTGGGCTTCTGGAAGCCTGGATCTGGAATCATTCACCAG | ATTATTCTGGAAAAC c.540
Y G V G F W K P G S G I I H Q | I I L E N p.180
. . . . . . g.51327
TATGCGTACCCTGGTGTTCTTCTGATTGGCACTGACTCCCACACCCCCAATGGTGGCGGC c.600
Y A Y P G V L L I G T D S H T P N G G G p.200
. . . . . . g.51387
CTTGGGGGCATCTGCATTGGAGTTGGGGGTGCCGATGCTGTGGATGTCATGGCTGGGATC c.660
L G G I C I G V G G A D A V D V M A G I p.220
. . | 06 . . . . g.51678
CCCTGGGAGCTGAAGTGCCCCAAG | GTGATTGGCGTGAAGCTGACGGGCTCTCTCTCCGGT c.720
P W E L K C P K | V I G V K L T G S L S G p.240
. . . . . . g.51738
TGGTCCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACGGTGAAAGGTGGC c.780
W S S P K D V I L K V A G I L T V K G G p.260
. . . . . | 07 . g.53407
ACAGGTGCAATCGTGGAATACCACGGGCCTGGTGTAGACTCCATCTCCTGCACTG | GCATG c.840
T G A I V E Y H G P G V D S I S C T G | M p.280
. . . . . . g.53467
GCGACAATCTGCAACATGGGTGCAGAAATTGGGGCCACCACTTCCGTGTTCCCTTACAAC c.900
A T I C N M G A E I G A T T S V F P Y N p.300
. . . . | 08 . . g.54376
CACAGGATGAAGAAGTACCTGAGCAAGACCGGCCGGGAAG | ACATTGCCAATCTAGCTGAT c.960
H R M K K Y L S K T G R E D | I A N L A D p.320
. . . . . . g.54436
GAATTCAAGGATCACTTGGTGCCTGACCCTGGCTGCCATTATGACCAACTAATTGAAATT c.1020
E F K D H L V P D P G C H Y D Q L I E I p.340
. | 09 . . . . . g.56094
AACCTCAGTGAG | CTGAAGCCACACATCAATGGGCCCTTCACCCCTGACCTGGCTCACCCT c.1080
N L S E | L K P H I N G P F T P D L A H P p.360
. . . . . | 10 g.58707
GTGGCAGAAGTGGGCAAGGTGGCAGAGAAGGAAGGATGGCCTCTGGACATCCGAGTGG | GT c.1140
V A E V G K V A E K E G W P L D I R V G | p.380
. . . . . . g.58767
CTAATTGGTAGCTGCACCAATTCAAGCTATGAAGATATGGGGCGCTCAGCAGCTGTGGCC c.1200
L I G S C T N S S Y E D M G R S A A V A p.400
. . . . . . g.58827
AAGCAGGCACTGGCCCATGGCCTCAAGTGCAAGTCCCAGTTCACCATCACTCCAGGTTCC c.1260
K Q A L A H G L K C K S Q F T I T P G S p.420
. . . | 11 . . . g.59104
GAGCAGATCCGCGCCACCATTGAGCGGGACGGCTAT | GCACAGATCTTGAGGGATCTGGGT c.1320
E Q I R A T I E R D G Y | A Q I L R D L G p.440
. . . . . | 12 . g.59715
GGCATTGTCCTGGCCAATGCTTGTGGCCCCTGCATTGGCCAGTGGGACAG | GAAGGACATC c.1380
G I V L A N A C G P C I G Q W D R | K D I p.460
. . . . . . g.59775
AAGAAGGGGGAGAAGAACACAATCGTCACCTCCTACAACAGGAACTTCACGGGCCGCAAC c.1440
K K G E K N T I V T S Y N R N F T G R N p.480
. . . . | 13 . . g.60739
GACGCAAACCCCGAGACCCATGCCTTTGTCACGTCCCCAGAG | ATTGTCACAGCCCTGGCC c.1500
D A N P E T H A F V T S P E | I V T A L A p.500
. . . . . . g.60799
ATTGCGGGAACCCTCAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAG c.1560
I A G T L K F N P E T D Y L T G T D G K p.520
. . . . | 14 . . g.61083
AAGTTCAGGCTGGAGGCTCCGGATGCAGATGAGCTTCCCAAAGGG | GAGTTTGACCCAGGG c.1620
K F R L E A P D A D E L P K G | E F D P G p.540
. . . . . . g.61143
CAGGACACCTACCAGCACCCACCCAAGGACAGCAGCGGGCAGCATGTGGACGTGAGCCCC c.1680
Q D T Y Q H P P K D S S G Q H V D V S P p.560
. . . . . . g.61203
ACCAGCCAGCGCCTGCAGCTCCTGGAGCCTTTTGACAAGTGGGATGGCAAGGACCTGGAG c.1740
T S Q R L Q L L E P F D K W D G K D L E p.580
. . | 15 . . . . g.62176
GACCTGCAGATCCTCATCAAG | GTCAAAGGGAAGTGTACCACTGACCACATCTCAGCTGCT c.1800
D L Q I L I K | V K G K C T T D H I S A A p.600
. . . . . . g.62236
GGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGT c.1860
G P W L K F R G H L D N I S N N L L I G p.620
. . . . . . g.62296
GCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTT c.1920
A I N I E N G K A N S V R N A V T Q E F p.640
. . . | 16 . . . g.63190
GGCCCCGTCCCTGACACTGCCCGCTACTACAAG | AAACATGGCATCAGGTGGGTGGTGATC c.1980
G P V P D T A R Y Y K | K H G I R W V V I p.660
. . . . . . g.63250
GGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCAC c.2040
G D E N Y G E G S S R E H A A L E P R H p.680
. . . . | 17 . . g.63790
CTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACG | AGACCAACCTGAAG c.2100
L G G R A I I T K S F A R I H E | T N L K p.700
. . . . . . g.63850
AAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCT c.2160
K Q G L L P L T F A D P A D Y N K I H P p.720
. . . . | 18 . g.64366
GTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAG | CCCCTGAAGTGC c.2220
V D K L T I Q G L K D F T P G K | P L K C p.740
. . . . . . g.64426
ATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAG c.2280
I I K H P N G T Q E T I L L N H T F N E p.760
. . . . . . g.64486
ACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAATGAAGGAACTGCAACAG c.2340
T Q I E W F R A G S A L N R M K E L Q Q p.780
g.64489
TGA c.2343
X p.780
. . . . . . g.64549
gggcagtgcctccccgccccgccgctggcgtcaagttcagctccacgtgtgccatcagtg c.*60
. . . . . . g.64609
gatccgatccgtccagccatggcttcctattccaagatggtgtgaccagacatgcttcct c.*120
. . . . . . g.64669
gctccccgcttagcccacggagtgactgtggttgtggtgggggggttcttaaaataactt c.*180
. . . . . . g.64729
tttagcccccgtcttcctattttgagtttggttcagatcttaagcagctccatgcaactg c.*240
. . . . . . g.64789
tatttatttttgatgacaagactcccatctaaagtttttctcctgcctgatcatttcatt c.*300
. . . . . . g.64849
ggtggctgaaggattctagagaaccttttgttcttgcaaggaaaacaagaatccaaaacc c.*360
. g.64865
agtgactgttctgtga c.*376
(downstream sequence)
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